| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.120840013_120840014delinsAT | CA1738882805 | TSPAN12 | c.149+13_149+14delinsAT (n.149+13_149+14delinsAT) | |
| 7 | g.120840015del | CA832470401 | TSPAN12 | c.149+13del (n.149+13del) | dbSNP |
| 7 | g.120840016A>T | CA2684648849 | TSPAN12 | c.149+11T>A (n.149+11T>A) | gnomAD v4 |
| 7 | g.120840017T>C | CA4453990 | TSPAN12 | c.149+10A>G (n.149+10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.120840017T= | CA1738882806 | TSPAN12 | c.149+10A= (n.149+10A=) | |
| 7 | g.120840021G>T | CA2684648850 | TSPAN12 | c.149+6C>A (n.149+6C>A) | gnomAD v4 |
| 7 | g.120840022T>C | CA2684648851 | TSPAN12 | c.149+5A>G (n.149+5A>G) | gnomAD v4 |
| 7 | g.120840024T>C | CA4453991 | TSPAN12 | c.149+3A>G (n.149+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120840024T= | CA1738882807 | TSPAN12 | c.149+3A= (n.149+3A=) | |
| 7 | g.120840025A>C | CA369141460 | TSPAN12 | c.149+2T>G (n.149+2T>G) | |
| 7 | g.120840025A>G | CA369141462 | TSPAN12 | c.149+2T>C (n.149+2T>C) | |
| 7 | g.120840025A>T | CA369141461 | TSPAN12 | c.149+2T>A (n.149+2T>A) | |
| 7 | g.120840026C>A | CA369141463 | TSPAN12 | c.149+1G>T (n.149+1G>T) | |
| 7 | g.120840026C>G | CA369141464 | TSPAN12 | c.149+1G>C (n.149+1G>C) | |
| 7 | g.120840026C>T | CA369141465 | TSPAN12 | c.149+1G>A (n.149+1G>A) | |
| 7 | g.120840027C>A | CA369141466 | TSPAN12 | c.149G>T (p.Arg50Met) | |
| 7 | g.120840027C>G | CA369141467 | TSPAN12 | c.149G>C (p.Arg50Thr) | |
| 7 | g.120840027C>T | CA369141468 | TSPAN12 | c.149G>A (p.Arg50Lys) | |
| 7 | g.120840028T>A | CA369141469 | TSPAN12 | c.148A>T (p.Arg50Trp) | ClinVar dbSNP |
| 7 | g.120840028T>C | CA369141470 | TSPAN12 | c.148A>G (p.Arg50Gly) | |
| 7 | g.120840028T>G | CA457397854 | TSPAN12 | c.148A>C (p.Arg50=) | |
| 7 | g.120840029C>A | CA457397855 | TSPAN12 | c.147G>T (p.Thr49=) | |
| 7 | g.120840029C= | CA1738882808 | TSPAN12 | c.147G= (p.Thr49=) | |
| 7 | g.120840029C>G | CA457397856 | TSPAN12 | c.147G>C (p.Thr49=) | |
| 7 | g.120840029C>T | CA4453992 | TSPAN12 | c.147G>A (p.Thr49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.120840030G>A | CA269454 | TSPAN12 | c.146C>T (p.Thr49Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120840030G>C | CA369141471 | TSPAN12 | c.146C>G (p.Thr49Arg) | |
| 7 | g.120840030G= | CA1738882809 | TSPAN12 | c.146C= (p.Thr49=) | |
| 7 | g.120840030G>T | CA4453993 | TSPAN12 | c.146C>A (p.Thr49Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.120840031T>A | CA369141474 | TSPAN12 | c.145A>T (p.Thr49Ser) | |
| 7 | g.120840031T>C | CA369141473 | TSPAN12 | c.145A>G (p.Thr49Ala) | ClinVar |
| 7 | g.120840031T>G | CA369141472 | TSPAN12 | c.145A>C (p.Thr49Pro) | |
| 7 | g.120840033del | CA2684648852 | TSPAN12 | c.145del (p.Thr49ArgfsTer3) | gnomAD v4 |
| 7 | g.120840032T>A | CA369141475 | TSPAN12 | c.144A>T (p.Glu48Asp) | |
| 7 | g.120840032T>C | CA457397858 | TSPAN12 | c.144A>G (p.Glu48=) | dbSNP gnomAD v4 |
| 7 | g.120840032T>G | CA369141476 | TSPAN12 | c.144A>C (p.Glu48Asp) | |
| 7 | g.120840032T= | CA1738882810 | TSPAN12 | c.144A= (p.Glu48=) | |
| 7 | g.120840033T>A | CA369141477 | TSPAN12 | c.143A>T (p.Glu48Val) | |
| 7 | g.120840033T>C | CA369141478 | TSPAN12 | c.143A>G (p.Glu48Gly) | |
| 7 | g.120840033T>G | CA369141479 | TSPAN12 | c.143A>C (p.Glu48Ala) | |
| 7 | g.120840034C>A | CA369141480 | TSPAN12 | c.142G>T (p.Glu48Ter) | |
| 7 | g.120840034C>G | CA369141481 | TSPAN12 | c.142G>C (p.Glu48Gln) | |
| 7 | g.120840034C>T | CA369141482 | TSPAN12 | c.142G>A (p.Glu48Lys) | |
| 7 | g.120840035T>A | CA457397862 | TSPAN12 | c.141A>T (p.Ala47=) | |
| 7 | g.120840035T>C | CA4453994 | TSPAN12 | c.141A>G (p.Ala47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.120840035T>G | CA457397863 | TSPAN12 | c.141A>C (p.Ala47=) | |
| 7 | g.120840035T= | CA1738882811 | TSPAN12 | c.141A= (p.Ala47=) | |
| 7 | g.120840036G>A | CA369141483 | TSPAN12 | c.140C>T (p.Ala47Val) | gnomAD v4 |
| 7 | g.120840036G>C | CA369141484 | TSPAN12 | c.140C>G (p.Ala47Gly) | |
| 7 | g.120840036G>T | CA369141485 | TSPAN12 | c.140C>A (p.Ala47Glu) | gnomAD v4 |